Annotation Detail
Information
- Associated Genes
- HRAS LRRC56
- Associated Variants
-
HRAS p.Gly12Cys (p.G12C)
(
ENST00000311189.8,
ENST00000397594.7,
ENST00000397596.6,
ENST00000417302.7,
ENST00000451590.5 )
HRAS p.Gly12Cys (p.G12C) ( ENST00000311189.8, ENST00000397594.7, ENST00000397596.6, ENST00000417302.7, ENST00000451590.5 ) - Associated Disease
- RASopathy
- Source Database
- ClinVar
- Description
- NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) AND RASopathy
- ClinVar Allele ID
- 27652
- ClinVar RefSeq Alternation Syntax
- NM_005343.4:c.34G>T
- ClinVar RefSeq Alternation Syntax
- NM_176795.5:c.34G>T
- ClinVar RefSeq Alternation Syntax
- NM_001130442.3:c.34G>T
- ClinVar RefSeq Alternation Syntax
- NM_001318054.2:c.-286G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000149829
- ClinVar Disease
- RASopathy
- Observed Origin Sample
- unknown
Drugs